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The Biology of Human Diseases, as Revealed Through Genomics

Guest Editors: Daniel MacArthur and Mark McCarthy

We are entering an era where the discovery of disease genes is conducted at the genome scale, and where integration of multiple types of ‘big data’ is used to elucidate variant-phenotype correlations. Additionally, a growing number of studies are identifying considerable overlap between common and rare human diseases, and further refining our understanding of their biology and the mechanisms by which they develop.

Genome Biology highlights important advances in human disease genomics with a special issue showcasing important work in this area.

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EDITORIALHuman disease genomics: from variants to biologyWe summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease.Mark I. McCarthy and Daniel G. MacArthur

OPINIONThe continuum of causality in human genetic disordersStudies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare,...Nicholas Katsanis

RESEARCHRevisiting the morbid genome of Mendelian disordersThe pathogenicity of many Mendelian variants has been challenged by large-scale sequencing efforts. However, many rare and benign “disease mutations” are difficult to analyze due to their rarity. The Saudi Ara...Mohamed Abouelhoda, Tariq Faquih, Mohamed El-Kalioby and Fowzan S. Alkuraya